DEVELOPMENT (DSD) 1 4 DISORDERS OF SEX

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1 Wit JM, Ranke MB, Kelnar CJH (eds): ESPE classification of paediatric endocrine diagnosis. 4. Disorders of sex development (DSD). Horm Res 2007;68(suppl 2):21 24 ESPE Code Diagnosis OMIM ICD 10 4 DISORDERS OF SEX DEVELOPMENT (DSD) 1 4A SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT Excluded: Disorders of gonadal differentiation that do not result in sex reversal/virilised female infant/undervirilised male such as: Klinefelter syndrome (14A.3) Turner syndrome (14A.5) 46 XX gonadal asis/dyssis (10A.1b/c). For later onset virilisation see contrasexual pubertal development (3C) 4A.0 Disorders of gonadal differentiation classified elsewhere Code 4A.0 is only to be used with a corresponding primary code (in parentheses) if the individual is undervirilised and/or has ambiguous genitalia; if genitalia are normal then use primary code alone or together with code for hypergonadotrophic hypogonadism (9A.0) as indicated Disorders classified elsewhere: 45,X (Turner syndrome and variants) (14A.5) 47,XXY (Klinefelter syndrome and variants) (14A.3) 46 XX gonadal asis/dyssis (10A.1b/c) 4A.1 45,X/46,XY (mixed gonadal dyssis, ovotesticular DSD) 2 Only includes individuals with 45X/46XY (or similar forms of sex chromosome mosaicism, e.g. 45,X/46,XY/47,XYY) and asymmetric gonads such as dystic testes on one side and streak on other, or ovotestis on one side with streak on other; individuals with bilateral dystic testes or dystic testes in association with normal male or female genitalia are not classified here but classified under 4A.0 Q97.8 (female phenotype) or Q98.8 (male phenotype) 4A.2 46,XX/46,XY (chimeric, ovotesticular DSD) 3 Q99.0 4A.8 Other, specified forms of sex chromosome DSD causing abnormal genitalia Q99.8 Disorders of Sex Development (DSD) 21

2 ESPE Code Diagnosis OMIM ICD 10 4B 46,XY DISORDERS OF SEX DEVELOPMENT 4 Excluded: Hypospadias (9E.1) or cryptorchidism (9B) without clear underlying endocrine etiology, and Leydig cell hypoplasia if not leading to a DSD (9A.1b) 4B.0 Undervirilised male classified elsewhere Note: this is a supplementary code to be used together with the primary code from respective chapters 4B.1 Disorders of gonadal (testicular) development 4B.1a Complete gonadal dyssis (Swyer syndrome) Q97.3 4B.1a.1 WT1; WAGR, Frasier syndrome and Denys-Drash syndrome * # # B.1a.2 SF B.1a.3 SRY * B.1a.4 SOX-9 (campomelic dysplasia) * B.1a.5 DHH * B.1a.6 ATRX * B.1a.7 ARX * B.1a.8 DMRT1 * B.1a.9 DAX1 # B.1a.10 WNT4 * B.1a.88 Other specified causes 4B.1a.99 Other causes, unspecified 4B.1b Partial gonadal dyssis Q99.1 4B.1c Gonadal regression Q99.1 4B.1d Ovotesticular DSD (includes 46,XY true hermaphroditism) # Q99.1 4B.2 Disorders in androgen synthesis or action 4B.2a Disorders classified elsewhere: Enzyme defects affecting synthesis of both corticosteroids and testosterone are primarily classified under congenital adrenal hyperplasia (8A.1): Lipoid CAH (cholesterol side chain cleavage deficiency, P450scc) (8A.1a) 3beta-Hydroxysteroid dehydrogenase deficiency (8A.1b) 17alpha-Hydroxylase and 17/20 lyase deficiency (P450c17) (8A.1f) P450 oxidoreductase deficiency (8A.1g) Smith-Lemli-Opitz syndrome (14B.33) 4B.2b Androgen biosynthesis defect E29.1 4B.2b.1 17-Hydroxysteroid dehydrogenase III deficiency 6 # E34.5 4B.2b.2 5 -Reductase deficiency 7 * E34.5 ESPE Classification of Paediatric Endocrine Diagnoses 22

3 ESPE Code Diagnosis OMIM ICD 10 4B.2c LH receptor defects, e.g. Leydig cell hypoplasia, aplasia E29.1 4B.2d Defect in androgen action (androgen insensitivity syndromes) 9 # E34.5 4B.2d.1 Complete androgen insensitivity syndrome (CAIS) 4B.2d.1a CAIS with demonstrated mutation of the androgen receptor 4B.2d.1b CAIS without demonstrated mutation of the androgen receptor 4B.2d.2 Partial androgen insensitivity syndrome (PAIS) 4B.2d.2a PAIS with demonstrated mutation of the androgen receptor 4B.2d.2b PAIS without demonstrated mutation of the androgen receptor 4B.3 Disorders of AMH and AMH receptor (persistent Müllerian # Q56.1 duct syndrome) Synonym: Hernia uteri inguinale, female genital ducts in otherwise normal male 4B.3a Defect in the for MIS 10 * Q56.1 4B.3b Defect in the for MIS (type II) receptor 11 * Q56.1 4B.4 Iatrogenic impairment of masculinisation of foetus (specify agent) 4B.8 Due to other, known causes not classified elsewhere E.g. severe hypospadias, cloacal extrophy Q56.1 E29.8 4B.9 Idiopathic E29.9 4C 46,XX DISORDERS OF SEX DEVELOPMENT 12 Excluded: Gonadal dyssis (10E.1) 4C.0 Virilised female classified elsewhere Congenital adrenal hyperplasia (8A.1) 4C.1 Disorders of gonadal (ovarian) development 4C.1a Ovotesticular DSD (previously called 46,XX true Q99.1 hermaphroiditism) 4C.1b Testicular DSD Q99.1 4C.1b.1 SRY+ 14 * C.1b.2 dup SOX9 15 * Disorders of Sex Development (DSD) 23

4 ESPE Code Diagnosis OMIM ICD 10 4C.2 Androgen excess Virilisation due to androgen production by the foetus and/or placenta 4C.2a Disorders classified elsewhere: 3beta-Hydroxysteroid dehydrogenase deficiency (8A.1b) 21-Hydroxylase deficiency (P450c21) (8A.1c) 11beta-Hydroxylase deficiency (8A.1d) Glucocorticoid receptor defect (8A.1h) 4C.2b Foetoplacental (P450-aromatase deficiency 16, P450 oxidoreductase deficiency) 4C.2c Maternal # E25.8 4C.2c.1 Iatrogenic (specify agent) E25.0 4C.2c.2 Virilising ovarian tumour D39.1 4C.2c.3 Virilising luteoma of pregnancy D27 4C.2c.4 Virilising adrenal tumour D35.0 4C.2c.5 Congenital virilising adrenal hyperplasia in mother E25.0 4C.8 Due to other, known causes not classified elsewhere E25.0 4C.9 Idiopathic virilisation of the foetus E25.0 4D UNCLASSIFIED FORMS OF ABNORMAL SEXUAL DEVELOPMENT/ANATOMICAL DISRUPTIONS 4D.1 Ambiguous genitalia with multiple congenital anomalies Q56.4 4D.1a In the 46,XY individual 4D.1b In the 46,XX individual 1 General commentary The LWPES/ESPE Consensus Group proposed the term Disorders of sex development (DSD), as defined by congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Synonyms: Previously used terms: intersex disorders, genital abnormalities [Hughes IA, et al: Arch Dis Child 2006;91:554]. 2 Mixed gonadal dyssis (MGD) Phenotype: Variable degree of impaired masculinisation, from almost female (in case of complete female phenotype classify as Turner syndrome (14A.5)) to normal male genitalia (14A.4). Hypospadias, cryptorchidism may be present. At puberty FSH and LH are usually elevated and testosterone decreased. Secondary to sex chromosomal mosaicism in a male, the gonads have become dystic in combinations ovary/testis, or testis/streak. Sometimes a tumour is found instead of a gonad. ESPE Classification of Paediatric Endocrine Diagnoses 24

5 Comments: The term MGD can be used when the above chromosomal mosaicism (or, in rare cases, 45,X/46,XY/47,XYY) is found, even if gonadal dyssis has not been proven anatomically. 3 Ovotesticular DSD Synonym: This condition was previously called true hermaphrodite. Phenotype: Baby born with ambiguous genitalia. Hypospadias, undescended testes/clitoromegaly, labial fusion. Both testicular and ovarian tissues identified in the gonads. T variable, FSH (+/N), LH (+/N). 4 46,XY DSD Synonyms: Was previously called male pseudohermaphrodite, or undervirilisation of an XY male, or undermasculinisation of an XY male. Phenotype: Incomplete maculinisation, hypospadias, cryptorchidism, bifid scrotum. Comments: The diagnosis incomplete masculinisation is really a symptom that may be caused by several different diseases. There is no sharp line between 46,XY DSD and hypospadias. Generally, the former term is used when at any time there has been uncertainty about the sex of rearing. 5 46,XY complete gonadal dyssis Synonym: Previously called XY sex reversal. Phenotype: Absence of female puberty. Streak gonads, prepubertal female phenotype. No breast development, primary amenorrhoea. From puberty FSH (+), LH (+), E2 ( ) Hydroxysteroid dehydrogenase III deficiency Synonym: 17-ketosteroid reductase deficiency (17-KSR deficiency). Phenotype: Female or ambiguous external genitalia, hypospadias, defective virilisation in XY individual. Partial androgenisation at puberty. Defective intrauterine virilisation of male genitalia. Adione (+), T ( ), DHT ( ), E1 (+), E2 ( ), possibly revealed after hcg stimulation. Adione to T ratio (+). 7 5alpha-Reductase deficiency Phenotype: Ambiguous genitalia or micropenis in XY individuals. Partial androgenisation at puberty. Defective intrauterine virilisation of male external genitalia. T (+), DHT ( ), possibly revealed after hcg stimulation. T to DHT ratio (+). 8 Leydig cell hypoplasia Synonym: LH receptor deficiency. Phenotype: Ambiguous genitalia. Defective development of Wolffian structures and male external genitalia. LH (+), T ( ). 9 Defect in androgen action (androgen insensitivity syndromes) Synonyms: Reifenstein syndrome; complete or partial AIS (CAIS or PAIS). Phenotype: External genitalia varying between female, ambiguous, micropenis or normal male. Hypospadia, cryptorchidism, defective virilisation at puberty; testes small to normal sized in adulthood. Histology shows quantitative and qualitative defect of spermatosis. Adulthood: FSH (N/+), LH (N/+), T (N/+). Disorders of Sex Development (DSD) 25

6 10 Defect in the for MIS Phenotype: Persistent Müllerian duct syndrome. Normal male phenotype. 11 Defect in the for MIS (type II) receptor Phenotype: Persistent Müllerian duct syndrome ,XX DSD Synonym: Was previously called female pseudohermaphrodite, or overvirilisation of an XX female, or masculinisation of an XX female ,XX testicular DSD Synonym: Was previously called XX male or XX sex reversal. 14 SRY+ Phenotype: External genitalia male or ambiguous. Testis or ovotestis. No Müllerian structures. Comment: Translocation of SRY. 15 dup SOX9 Phenotype: External genitalia male or ambiguous. 16 P450-aromatase deficiency Phenotype: In XX individuals ambiguous genitalia. Maternal androgenisation during pregnancy, absent breast development at puberty, except in partial cases. ESPE Classification of Paediatric Endocrine Diagnoses 26

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